Revel Score:
ENST00000456098
0.879
ENST00000337514 (MANE Select)
0.879
ENST00000392904
0.879
ENST00000424202
0.879
ENST00000392905
0.879
ENST00000307046
0.879
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102419619G>A , CM000674.2:g.102419619G>A | GRCh38 |
| NC_000012.11:g.102813397G>A , CM000674.1:g.102813397G>A | GRCh37 |
| NC_000012.10:g.101337527G>A | NCBI36 |
| NG_011713.1:g.65982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337514.11:c.292C>T (IGF1) MANE Select | ENSP00000337612.7:p.Arg98Trp | |
| ENST00000392905.7:c.292C>T (IGF1) | ENSP00000376638.3:p.Arg98Trp | |
| ENST00000644491.1:c.292C>T (IGF1) | ENSP00000494228.1:p.Arg98Trp | |
| ENST00000307046.8:c.292C>T (IGF1) | ENSP00000302665.8:p.Arg98Trp | |
| ENST00000337514.10:c.292C>T (IGF1) | ENSP00000337612.6:p.Arg98Trp | |
| ENST00000392904.5:c.292C>T (IGF1) | ENSP00000376637.1:p.Arg98Trp | |
| ENST00000392905.6:c.235C>T (IGF1) | ENSP00000376638.2:p.Arg79Trp | |
| ENST00000424202.6:c.244C>T (IGF1) | ENSP00000416811.2:p.Arg82Trp | |
| ENST00000456098.5:c.292C>T (IGF1) | ENSP00000394999.1:p.Arg98Trp | |
| NM_000618.3:c.292C>T (IGF1) | NP_000609.1:p.Arg98Trp | |
| NM_000618.4:c.292C>T (IGF1) | NP_000609.1:p.Arg98Trp | |
| NM_001111283.1:c.292C>T (IGF1) | NP_001104753.1:p.Arg98Trp | |
| NM_001111283.2:c.292C>T (IGF1) | NP_001104753.1:p.Arg98Trp | |
| NM_001111284.1:c.244C>T (IGF1) | NP_001104754.1:p.Arg82Trp | |
| NM_001111285.1:c.292C>T (IGF1) | NP_001104755.1:p.Arg98Trp | |
| XR_944534.1:n.551C>T (IGF1) | ||
| XR_944535.1:n.328C>T (IGF1) | ||
| XR_944536.1:n.313C>T (IGF1) | ||
| XR_945270.1:n.6576-3452G>A (LINC02456) | ||
| XR_945271.1:n.5629-3452G>A (LINC02456) | ||
| XR_945272.1:n.6576-3452G>A (LINC02456) | ||
| XR_945273.1:n.6526-3452G>A (LINC02456) | ||
| XR_945274.1:n.6252-3452G>A (LINC02456) | ||
| XR_945275.1:n.6132-3452G>A (LINC02456) | ||
| XR_945276.1:n.6104-3452G>A (LINC02456) | ||
| XR_945277.1:n.2200-3452G>A (LINC02456) | ||
| NM_001111285.2:c.292C>T (IGF1) | NP_001104755.1:p.Arg98Trp | |
| XM_017019259.1:c.343C>T (IGF1) | XP_016874748.1:p.Arg115Trp | |
| XM_017019261.1:c.244C>T (IGF1) | XP_016874750.1:p.Arg82Trp | |
| XM_017019262.2:c.343C>T (IGF1) | XP_016874751.1:p.Arg115Trp | |
| XM_017019263.2:c.343C>T (IGF1) | XP_016874752.1:p.Arg115Trp | |
| XR_001749285.1:n.3025-3452G>A (LINC02456) | ||
| NM_000618.5:c.292C>T (IGF1) MANE Select | NP_000609.1:p.Arg98Trp | |
| NM_001111283.3:c.292C>T (IGF1) | NP_001104753.1:p.Arg98Trp | |
| NM_001111284.2:c.244C>T (IGF1) | NP_001104754.1:p.Arg82Trp | |
| NM_001111285.3:c.292C>T (IGF1) | NP_001104755.1:p.Arg98Trp |